National Institutes of HealthNational Institute of Arthritis and

Musculoskeletal and Skin Diseases

Scleroderma

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This booklet is not copyrighted. Readers are encouraged to duplicate and distribute as many copies as needed.

Additional copies of this booklet are available fromthe National Institute of Arthritis and Musculoskeletaland Skin Diseases Information Clearinghouse,NIAMS/National Institutes of Health, 1 AMS Circle,Bethesda, MD 20892–3675, and on the NIAMS Website at www.nih.gov/niams/healthinfo.

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This publication contains information about medica-tions used to treat the health condition discussed inthis booklet. When this booklet was printed, weincluded the most up-to-date (accurate) informationavailable. Occasionally, new information on medica-tion is released.

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About NIAMS and Its Clearinghouse: The mission of the National Institute of Arthritis andMusculoskeletal and Skin Diseases (NIAMS), a part of the Department of Health and Human Services’ NationalInstitutes of Health (NIH), is to support research into thecauses, treatment, and prevention of arthritis andmusculoskeletal and skin diseases; the training of basicand clinical scientists to carry out this research;. and thedissemination of information on research progress in thesediseases. The National Institute of Arthritis andMusculoskeletal and Skin Diseases InformationClearinghouse is a public service sponsored by theNIAMS that provides health information and informationsources. Additional information can be found on theNIAMS Web site at www.nih.gov/niams.

Table of Contents

What Is Scleroderma? . . . . . . . . . . . . . . . . . . . . . . . . . . . 1

What Are the Different Types of Scleroderma? . . . . . . 2

What Causes Scleroderma? . . . . . . . . . . . . . . . . . . . . . . 7

Who Gets Scleroderma? . . . . . . . . . . . . . . . . . . . . . . . . . 9

How Can Scleroderma Affect My Life? . . . . . . . . . . . . 10

How Is Scleroderma Diagnosed? . . . . . . . . . . . . . . . . . 13

What Other Conditions Can Look Like Scleroderma? . 15

How Is Scleroderma Treated? . . . . . . . . . . . . . . . . . . . . 17

How Can I Play a Role in My Health Care? . . . . . . . . 26

Is Research Close to Finding a Cure? . . . . . . . . . . . . . . 29

More Questions? Count on More Answers . . . . . . . . . . 32

National Resources for Scleroderma . . . . . . . . . . . . . . 33

Glossary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 36

1

Scleroderma

This booklet is for people who have scleroderma, as well

as for their family members, friends, and others who want

to find out more about the disease. This booklet describes

the different forms of scleroderma and provides information

on their symptoms, diagnosis, and treatment, including

what patients can do to help manage their disease and

the problems associated with it. It also highlights current

research efforts into the understanding and treatment

of scleroderma, many of which are supported by the

National Institute of Arthritis and Musculoskeletal and

Skin Diseases (NIAMS) and other components of the

National Institutes of Health (NIH). If you have further

questions after reading this booklet, you may wish to

discuss them with your doctor.

What Is Scleroderma?

D erived from the Greek words “sklerosis,” meaninghardness, and “derma,” meaning skin, scleroderma

literally means hard skin. Though it is often referred to asif it were a single disease, scleroderma is really a symptomof a group of diseases that involve the abnormal growth ofconnective tissue, which supports the skin and internalorgans. It is sometimes used, therefore, as an umbrellaterm for these disorders. In some forms of scleroderma,hard, tight skin is the extent of this abnormal process. Inother forms, however, the problem goes much deeper,affecting blood vessels and internal organs, such as theheart, lungs, and kidneys.

2

Scleroderma is called both a rheumatic (roo-MA-tik) dis-ease and a connective tissue disease. The term rheumaticdisease refers to a group of conditions characterized byinflammation and/or pain in the muscles, joints, or fibroustissue. A connective tissue disease is one that affects themajor substances in the skin, tendons, and bones.

In this booklet we’ll discuss the forms of sclerodermaand the problems with each of them as well as diagnosisand disease management. We’ll also take a look at whatresearch is telling us about their possible causes and mosteffective treatments, and ways to help people with sclero-derma live longer, healthier, and more productive lives.

What Are the Different Types of Scleroderma?

The group of diseases we call scleroderma falls into twomain classes: localized scleroderma and systemic

sclerosis. (Localized diseases affect only certain parts ofthe body; systemic diseases can affect the whole body.)Both groups include subgroups. (See chart.) Althoughthere are different ways these groups and subgroups maybe broken down or referred to (and your doctor may usedifferent terms from what you see here), the following isa common way of classifying these diseases:

Types of Scleroderma

3

Localized SclerodermaLocalized types of scleroderma are those limited to the skinand related tissues and, in some cases, the muscle below.Internal organs are not affected bylocalized scleroderma, and localizedscleroderma can never progress to thesystemic form of the disease. Often,localized conditions improve or goaway on their own over time, but theskin changes and damage that occurwhen the disease is active can be per-manent. For some people, localizedscleroderma is serious and disabling.

There are two generally recognizedtypes of localized scleroderma:

Morphea: Morphea (mor-FEE-ah)comes from a Greek word that means“form” or “structure.” The word refersto local patches of scleroderma. Thefirst signs of the disease are reddish patches of skin thatthicken into firm, oval-shaped areas. The center of eachpatch becomes ivory colored with violet borders. Thesepatches sweat very little and have little hair growth. Patchesappear most often on the chest, stomach, and back.Sometimes they appear on the face, arms, and legs.

Morphea can be either localized or generalized. Localizedmorphea limits itself to one or several patches, ranging insize from a half-inch to 12 inches in diameter. The conditionsometimes appears on areas treated by radiation therapy.Some people have both morphea and linear scleroderma(described on the next page). The disease is referred to asgeneralized morphea when the skin patches become veryhard and dark and spread over larger areas of the body.

Morphea comes

from a Greek

word that means

“form” or

“structure.”

4

Regardless of the type, morphea generally fades out in 3 to5 years; however, people are often left with darkened skinpatches and, in rare cases, muscle weakness.

Linear scleroderma: As suggested by its name, the diseasehas a single line or band of thickened and/or abnormallycolored skin. Usually, the line runs down an arm or leg,but in some people it runs down the forehead. Peoplesometimes use the French term en coup de sabre, or“sword stroke,” to describe this highly visible line.

Systemic Scleroderma (also known as Systemic Sclerosis)

Systemic scleroderma, or systemic sclerosis, is the termfor the disease that not only includes the skin, but alsoinvolves the tissues beneath to the blood vessels andmajor organs. Systemic sclerosis is typically brokendown into diffuse and limited disease. People with sys-temic sclerosis often have all or some of the symptomsthat some doctors call CREST, which stands for the fol-lowing:

■ Calcinosis (KAL-sin-OH-sis): the formation ofcalcium deposits in the connective tissues, whichcan be detected by x ray. They are typically foundon the fingers, hands, face, and trunk and on theskin above elbows and knees. When the depositsbreak through the skin, painful ulcers can result.

■ Raynaud’s (ray-NOHZ) phenomenon: a condi-tion in which the small blood vessels of the handsand/or feet contract in response to cold or anxiety.As the vessels contract, the hands or feet turnwhite and cold, then blue. As blood flow returns,they become red. Fingertip tissues may sufferdamage, leading to ulcers, scars, or gangrene.

5

■ Esophageal (eh-SOFF-uh-GEE-ul) dysfunction:impaired function of the esophagus (the tube connecting the throat and the stomach) that occurswhen smooth muscles in the esophagus lose normalmovement. In the upper esophagus, the result canbe swallowing difficulties; in the lower esophagus,the problem can cause chronic heartburn orinflammation.

■ Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting fromdeposits of excess collagen within skin layers. Thecondition makes it harder to bend or straightenthe fingers. The skin may also appear shiny anddarkened, with hair loss.

■ Telangiectasias (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that arecaused by the swelling of tiny blood vessels.While not painful, these red spots can create cosmetic problems.

Limited scleroderma: Limited scleroderma typicallycomes on gradually and affects the skin only in certainareas: the fingers, hands, face, lower arms, and legs.Many people with limited disease have Raynaud’s phe-nomenon for years before skin thickening starts. Othersstart out with skin problems over much of the body, whichimproves over time, leaving only the face and hands withtight, thickened skin. Telangiectasias and calcinosis oftenfollow. Because of the predominance of CREST in peoplewith limited disease, some doctors refer to limited diseaseas the CREST syndrome.

Diffuse scleroderma: Diffuse scleroderma typicallycomes on suddenly. Skin thickening occurs quickly andover much of the body, affecting the hands, face, upper

6

arms, upper legs, chest, and stomach in a symmetrical fash-ion (for example, if one arm or one side of the trunk isaffected, the other is also affected). Some people may havemore area of their skin affected than others. Internally, it

can damage key organs such as theheart, lungs, and kidneys.

People with diffuse disease are oftentired, lose appetite and weight, andhave joint swelling and/or pain. Skinchanges can cause the skin to swell,appear shiny, and feel tight and itchy.

The damage of diffuse sclerodermatypically occurs over a few years.After the first 3 to 5 years, people withdiffuse disease often enter a stablephase lasting for varying lengths oftime. During this phase, skin thick-ness and appearance stay about thesame. Damage to internal organs progresses little, if at all. Symptomsalso subside: joint pain eases, fatigue

lessens, and appetite returns.

Gradually, however, the skin starts to change again. Lesscollagen is made and the body seems to get rid of theexcess collagen. This process, called “softening,” tends tooccur in reverse order of the thickening process: the lastareas thickened are the first to begin softening. Somepatients’ skin returns to a somewhat normal state, whileother patients are left with thin, fragile skin without hairor sweat glands. More serious damage to heart, lungs, orkidneys is unlikely to occur unless previous damageleads to more advanced deterioration.

People with diffuse

disease are often

tired, lose appetite

and weight, and

have joint pain.

7

People with diffuse scleroderma face the most serious long-term outlook if they develop severe kidney, lung, digestive,or heart problems. Fortunately, less than one-third ofpatients with diffuse disease develop these problems. Early diagnosis and continualand careful monitoring are important.

Sine scleroderma: Some doctorsbreak systemic sclerosis down into athird subset called systemic sclerosissine (SEEN-ay, Latin for “without”)scleroderma. Sine may resemble eitherlimited or diffuse systemic sclerosis,causing changes in the lungs, kidneys,and blood vessels. However, there isone key difference between sine andother forms of systemic sclerosis: itdoes not affect the skin.

What Causes Scleroderma?

A lthough scientists don’t know exactly what causesscleroderma, they are certain that people cannot catch

it from or transmit it to others. Studies of twins suggest itis also not inherited. Scientists suspect that sclerodermacomes from several factors that may include:

Abnormal immune or inflammatory activity: Like manyother rheumatic disorders, scleroderma is believed to bean autoimmune disease. An autoimmune disease is one inwhich the immune system, for unknown reasons, turnsagainst one’s own body.

In scleroderma, the immune system is thought to stimulatecells called fibroblasts to produce too much collagen.

Scleroderma is

believed to be an

autoimmune

disease.

8

In scleroderma, collagen forms thick connective tissuethat builds up around the cells of the skin and internalorgans. In milder forms, the effects of this buildup are

limited to the skin and blood vessels.In more serious forms, it also caninterfere with normal functioning ofskin, blood vessels, joints, and inter-nal organs.

Genetic makeup: While genes seemto put certain people at risk for sclero-derma and play a role in its course,the disease is not passed from parentto child like some genetic diseases.

However, some research suggests that having children may increase a woman’s risk of scleroderma.Scientists have learned that when awoman is pregnant, cells from herbaby can pass through the placenta,enter her blood stream, and linger inher body—in some cases, for manyyears after the child’s birth. Recently,scientists have found fetal cells frompregnancies of years past in the skinlesions of some women with sclero-

derma. They think that these cells, which are differentfrom the woman’s own cells, may either begin animmune reaction to the woman’s own tissues or trigger aresponse by the woman’s immune system to rid her bodyof those cells. Either way, the woman’s healthy tissuesmay be damaged in the process. Further studies are neededto find out if fetal cells play a role in the disease.

In scleroderma,

collagen forms

thick connective

tissue that builds

up around the

cells of the skin

and internal

organs.

9

Environmental triggers: Research suggests that exposureto some environmental factors may trigger the disease inpeople who are genetically predisposed to it. Suspectedtriggers include viral infections, cer-tain adhesive and coating materials,and organic solvents such as vinylchloride or trichloroethylene. In thepast, some people believed that sili-cone breast implants might have beena factor in developing connective tis-sue diseases such as scleroderma. Butseveral studies have not shown evi-dence of a connection.

Hormones: By the middle to latechildbearing years (ages 30 to 55),women develop scleroderma at a rate7 to 12 times higher than men.Because of female predominance atthis and all ages, scientists suspect thatsomething distinctly feminine, such asthe hormone estrogen, plays a role in the disease. Sofar, the role of estrogen or other female hormones hasnot been proven.

Who Gets Scleroderma?

A lthough scleroderma is more common in women, thedisease also occurs in men and children. It affects

people of all races and ethnic groups. However, there aresome patterns by disease type. For example:

■ Localized forms of scleroderma are more commonin people of European descent than in AfricanAmericans.

Scleroderma

affects people

of all races

and ethnic

groups.

10

■ Morphea usually appears between the ages of 20and 40.

■ Linear scleroderma usually occurs in children orteenagers.

■ Systemic scleroderma, whether limited or diffuse,typically occurs in people from 30 to 50 years old.It affects more women of African American thanEuropean descent.

Because scleroderma can be hard to diagnose and it overlaps with or resembles other diseases, scientists canonly estimate how many cases there actually are. Estimatesfor the number of people in the United States with systemicsclerosis range from 40,000 to 165,000. By contrast, asurvey that included all scleroderma-related disorders,including Raynaud’s phenomenon, suggested a numberbetween 250,000 and 992,500.

For some people, scleroderma (particularly the localizedforms) is fairly mild and resolves with time. But for others,living with the disease and its effects day to day has asignificant impact on their quality of life.

How Can Scleroderma Affect My Life?

H aving a chronic disease can affect almost every aspectof your life, from family relationships to holding a job.

For people with scleroderma, there may be other concernsabout appearance or even the ability to dress, bathe, orhandle the most basic daily tasks. Here are some areas inwhich scleroderma could intrude.

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Appearance and self-esteem: Aside from the initial concerns about health and longevity, one of the first fearspeople with scleroderma have is how the disease will affecttheir appearance. Thick, hardened skin can be difficult toaccept, particularly on the face. Systemic sclerodermamay result in facial changes that eventually cause theopening to the mouth to become smaller and the upperlip to virtually disappear. Linear scleroderma may leaveits mark on the forehead. Although these problems can’talways be prevented, their effects may be minimized withproper treatment and skin care. Special cosmetics—andin some cases, plastic surgery—can help conceal sclero-derma’s damage.

Caring for yourself: Tight, hard connective tissue in thehands can make it difficult to do what were once simpletasks, such as brushing your teeth and hair, pouring a cupof coffee, using a knife and fork, unlocking a door, orbuttoning a jacket. If you have trouble using your hands,consult an occupational therapist, who can recommendnew ways of doing things or devices to make tasks easier.Devices as simple as Velcro* fasteners and built-up brushhandles can help you be more independent.

Family relationships: Spouses, children, parents, andsiblings may have trouble understanding why you don’thave the energy to keep house, drive to soccer practice,prepare meals, and hold a job the way you used to. Ifyour condition isn’t that visible, they may even suggestyou are just being lazy. On the other hand, they may beoverly concerned and eager to help you, not allowing you

* Brand names included in this booklet are provided as examples only, and their inclusion does not mean that these products are endorsed by theNational Institutes of Health or any other Government agency. Also, if aparticular brand name is not mentioned, this does not mean or imply thatthe product is unsatisfactory.

to do the things you are able to do or giving up their owninterests and activities to be with you. It’s important to

learn as much about your form of thedisease as you can and share anyinformation you have with your fami-ly. Involving them in counseling or asupport group may also help thembetter understand the disease and howthey can help you.

Sexual relations: Sexual relation-ships can be affected when systemicscleroderma enters the picture. Formen, the disease’s effects on theblood vessels can lead to problemsachieving an erection. In women,damage to the moisture-producingglands can cause vaginal drynessthat makes intercourse painful.People of either sex may find they

have difficulty moving the way they once did. They may be self-conscious about theirappearance or afraid that their sexual partner will nolonger find them attractive. With communicationbetween partners, good medical care, and perhaps coun-seling, many of these changes can be overcome or at leastworked around.

Pregnancy and childbearing: In the past, women withsystemic scleroderma were often advised not to have chil-dren. But thanks to better medical treatments and a betterunderstanding of the disease itself, that advice is chang-ing. (Pregnancy, for example, is not likely to be a problemfor women with localized scleroderma.) Although bloodvessel involvement in the placenta may cause babies of

12

It’s important

to learn as much

about your form

of the disease

as you can.

13

women with systemic scleroderma to be born early, manywomen with the disease can have safe pregnancies andhealthy babies if they follow some precautions.

One of the most important pieces of advice is to wait a few years after the disease starts before attempting a preg-nancy. During the first 3 years you are at the highest risk ofdeveloping severe problems of the heart, lungs, or kidneysthat could be harmful to you and your unborn baby.

If you haven’t developed organ problems within 3 years ofthe disease’s onset, chances are you won’t, and pregnancyshould be safe. But it is important to have both your diseaseand your pregnancy monitored regularly. You’ll probablyneed to stay in close touch with the doctor you typically seefor your scleroderma as well as an obstetrician experiencedin guiding high-risk pregnancies.

How Is Scleroderma Diagnosed?

Depending on your particular symptoms, a diagnosis of scleroderma may be made by a general internist,

a dermatologist (a doctor who specializes in treating diseases of the skin, hair, and nails), an orthopaedist (adoctor who treats bone and joint disorders), a pulmonolo-gist (lung specialist), or a rheumatologist (a doctor spe-cializing in treatment of rheumatic diseases). A diagnosisof scleroderma is based largely on the medical historyand findings from the physical exam. To make a diagno-sis, your doctor will ask you a lot of questions aboutwhat has happened to you over time and about anysymptoms you may be experiencing. Are you having aproblem with heartburn or swallowing? Are you oftentired or achy? Do your hands turn white in response toanxiety or cold temperatures?

Once your doctor has taken a thorough medical history,he or she will perform a physical exam. Finding one ormore of the following factors can help the doctor diagnosea certain form of scleroderma:

■ Changed skin appearance and texture, includingswollen fingers and hands and tight skin aroundthe hands, face, mouth, or elsewhere

■ Calcium deposits developing under the skin

■ Changes in the tiny blood vessels (capillaries) atthe base of the fingernails

■ Thickened skin patches.

Finally, your doctor may order lab tests to help confirm a suspected diagnosis. At least two proteins, called anti-bodies, are commonly found in the blood of people withscleroderma:

■ Antitopoisomerase-1 or Anti-Scl-70 antibodiesappear in the blood of up to 40 percent of peoplewith diffuse systemic sclerosis.

■ Anticentromere antibodies are found in the bloodof as many as 90 percent of people with limitedsystemic sclerosis.

A number of other scleroderma-specific antibodies canoccur in people with scleroderma, although less frequent-ly. When present, however, they are helpful in clinicaldiagnosis.

Because not all people with scleroderma have these antibodies and because not all people with the antibodieshave scleroderma, lab test results alone cannot confirmthe diagnosis.

14

15

In some cases, your doctor may order a skin biopsy (thesurgical removal of a small sample of skin for micro-scopic examination) to aid in or help confirm a diagnosis.However, skin biopsies, too, have their limitations: biop-sy results cannot distinguish between localized and sys-temic disease, for example.

Diagnosing scleroderma is easiest when a person has typ-ical symptoms and rapid skin thickening. In other cases,a diagnosis may take months, or even years, as the diseaseunfolds and reveals itself and as the doctor is able to ruleout some other potential causes of the symptoms. In somecases, a diagnosis is never made, because the symptomsthat prompted the visit to the doctor go away on their own.

What Other Conditions Can Look Like Scleroderma?

Symptoms similar to those seen in scleroderma canoccur with a number of other diseases. Here are some

of the most common scleroderma lookalikes:

■ Eosinophilic fasciitis (EF) (EE-oh-SIN-oh-FIL-ik fa-shi-EYE-tis): a disease that involves thefascia (FA-shuh), the thin connective tissue aroundthe muscles, particularly those of the forearms,arms, legs, and trunk. EF causes the muscles tobecome encased in collagen, the fibrous proteinthat makes up tissue such as the skin and tendons.Permanent shortening of the muscles and tendons,called contractures, may develop, sometimescausing disfigurement and problems with jointmotion and function. EF may begin after hardphysical exertion. The disease usually fades awayafter several years, but people sometimes haverelapses. Although the upper layers of the skin arenot thickened in EF, the thickened fascia may

16

cause the skin to look somewhat like the tight,hard skin of scleroderma. A skin biopsy easilydistinguishes between the two.

■ Undifferentiated connective tissue disease(UCTD): a diagnosis for patients who have somesigns and symptoms of various related diseases, butnot enough symptoms of any one disease to make adefinite diagnosis. In other words, their conditionhasn’t “differentiated” into a particular connectivetissue disease. In time, UCTD can go in one ofthree directions: it can change into a systemic dis-ease such as systemic sclerosis, systemic lupus ery-thematosus, or rheumatoid arthritis; it can remainundifferentiated; or it can improve spontaneously.

■ Overlap syndromes: a disease combination inwhich patients have symptoms and lab findingscharacteristic of two or more conditions.

At other times, symptoms resembling those of scleroder-ma can be the result of an unrelated disease or condition.For example:

■ Skin thickening on the fingers and hands alsoappears with diabetes, mycosis fungoides, amy-loidosis, and adult celiac disease. It can alsoresult from hand trauma.

■ Generalized skin thickening may occur withscleromyxedema, graft-versus-host disease, por-phyria cutanea tarda, and human adjuvant disease.

■ Internal organ damage, similar to that seen insystemic sclerosis, may instead be related to primary pulmonary hypertension, idiopathic pulmonary fibrosis, or collagenous colitis.

17

■ Raynaud’s phenomenon also appears withatherosclerosis or systemic lupus erythematosusor in the absence of underlying disease.

An explanation of most of these other diseases is beyondthe scope of this booklet (for brief definitions, see theglossary). What’s important to understand, however, isthat scleroderma isn’t always easy to diagnose; it maytake time for you and your doctor to establish a diagnosis.And while having a definite diagnosis may be helpful,knowing the precise form of your disease is not neededto receive proper treatment.

How Is Scleroderma Treated?

Because scleroderma can affect many different organsand organ systems, you may have several different

doctors involved in your care. Typically, care will bemanaged by a rheumatologist, a specialist who treatspeople with diseases of the joints, bones, muscles, andimmune system. Your rheumatologist may refer you toother specialists, depending on the specific problems youare having: for example, a dermatologist for the treatmentof skin symptoms, a nephrologist for kidney complications,a cardiologist for heart complications, a gastroenterologistfor problems of the digestive tract, and a pulmonary spe-cialist for lung involvement.

In addition to doctors, professionals like nurse practi-tioners, physician assistants, physical or occupationaltherapists, psychologists, and social workers may play arole in your care. Dentists, orthodontists, and evenspeech therapists can treat oral complications that arisefrom thickening of tissues in and around the mouth andon the face.

18

Currently, there is no treatment that controls or stops theunderlying problem—the overproduction of collagen—inall forms of scleroderma. Thus, treatment and manage-

ment focus on relieving symptomsand limiting damage. Your treatmentwill depend on the particular prob-lems you are having. Some treatmentswill be prescribed or given by yourphysician. Others are things you cando on your own.

Here are some of the potential prob-lems that can occur in systemicscleroderma and the medical and nonmedical treatments for them.(These problems do not occur as aresult or complication of localizedscleroderma.)

[Note: This is not a complete listingof problems or their treatments. Different people experi-ence different problems with scleroderma and not alltreatments work equally well for all people. Work withyour doctor to find the best treatment for your specificsymptoms.]

Raynaud’s phenomenon: One of the most commonproblems associated with scleroderma, Raynaud’s phenomenon can be uncomfortable and can lead topainful skin ulcers on the fingertips. Smoking makes the condition worse. The following measures may makeyou more comfortable and help prevent problems:

■ Don’t smoke! Smoking narrows the blood vessels even more and makes Raynaud’s phenomenon worse.

Treatment and

management focus

on relieving

symptoms and

limiting damage.

19

■ Dress warmly, with special attention to hands andfeet. Dress in layers and try to stay indoors duringcold weather.

■ Use biofeedback (to control various body processesthat are not normally thought of as being underconscious control) and relaxation exercises.

■ For severe cases, speak to your doctor about prescribing drugs called calcium channel blockers,such as nifedipine (Procardia), which can open up small blood vessels and improve circulation.Other drugs are in development and may becomeavailable in the future.

■ If Raynaud’s leads to skin sores or ulcers, increas-ing your dose of calcium channel blockers (underthe direction of your doctor ONLY) may help. You can also protect skin ulcers from further injuryor infection by applying nitroglycerine paste orantibiotic cream. Severe ulcerations on the finger-tips can be treated with bioengineered skin.

20

Raynaud’s Phenomenon More than 70 percent of people with scleroderma

first notice this problem when their fingers

turn cold or blue, typically in response to cold

temperatures or emotional distress.

Raynaud’s phenomenon, as the condition is called,

may precede scleroderma by years.

In many people, however, Raynaud’s phenomenon is

unrelated to scleroderma, but may signal damage

to the blood vessels supplying the hands arising from such

conditions as occupational injuries (from using

jackhammers, for example), trauma, excessive smoking,

circulatory problems, and drug use or exposure

to toxic substances.

For some people, cold fingers (and toes) are the extent

of the problem and are little more than a nuisance.

For others, the condition can worsen

and lead to puffy fingers, finger ulcers, and other

complications that require aggressive treatment.

21

Stiff, painful joints: In diffuse systemic sclerosis, handjoints can stiffen because of hardened skin around thejoints or inflammation of the joints themselves. Otherjoints can also become stiff and swollen. The followingmay help:

■ Exercise regularly. Ask your doctor or physicaltherapist about an exercise plan that will help youincrease and maintain range of motion in affectedjoints. Swimming can help maintain musclestrength, flexibility, and joint mobility.

■ Use acetaminophen or an over-the-counter or prescription nonsteroidal anti-inflammatory drug,as recommended by your doctor, to help relievejoint or muscle pain. If pain is severe, speak to arheumatologist about the possibility of prescription-strength drugs to ease pain and inflammation.

■ Learn to do things in a new way. A physical or occupational therapist can help you learn toperform daily tasks, such as lifting and carryingobjects or opening doors, in ways that will putless stress on tender joints.

Skin problems: When too much collagen builds up inthe skin, it crowds out sweat and oil glands, causing theskin to become dry and stiff. If your skin is affected, youmay need to see a dermatologist. To ease dry skin, try the following:

■ Apply oil-based creams and lotions frequently,and always right after bathing.

■ Apply sunscreen before you venture outdoors, toprotect against further damage by the sun’s rays.

22

■ Use humidifiers to moisten the air in your homein colder winter climates. (Clean humidifiers oftento stop bacteria from growing in the water.)

■ Avoid very hot baths and showers, as hot waterdries the skin.

■ Avoid harsh soaps, household cleaners, and caustic chemicals, if at all possible. If that’s notpossible, be sure to wear rubber gloves when you use such products.

■ Exercise regularly. Exercise, especially swimming,stimulates blood circulation to affected areas.

Dry mouth and dental problems: Dental problems are common in people with scleroderma for a number of reasons: tightening facial skin can make the mouthopening smaller and narrower, which makes it hard tocare for teeth; dry mouth due to salivary gland damagespeeds up tooth decay; and damage to connective tissuesin the mouth can lead to loose teeth. You can avoid toothand gum problems in several ways:

■ Brush and floss your teeth regularly. (If handpain and stiffness make this difficult, consult yourdoctor or an occupational therapist about speciallymade toothbrush handles and devices to makeflossing easier.)

■ Have regular dental checkups. Contact your dentistimmediately if you experience mouth sores, mouthpain, or loose teeth.

■ If decay is a problem, ask your dentist about fluoride rinses or prescription toothpastes thatremineralize and harden tooth enamel.

■ Consult a physical therapist about facial exercisesto help keep your mouth and face more flexible.

■ Keep your mouth moist by drinking plenty of water,sucking ice chips, using sugarless gum and hardcandy, and avoiding mouthwashes with alcohol. If dry mouth still bothers you, ask your doctorabout a saliva substitute or a prescription medica-tion called pilocarpine hydrochloride (Salagen) thatcan stimulate the flow of saliva.

Gastrointestinal (GI) problems: Systemic sclerosis canaffect any part of the digestive system. As a result, youmay experience problems such as heartburn, difficultyswallowing, early satiety (the feeling of being full afteryou’ve barely started eating), or intestinal complaintssuch as diarrhea, constipation, and gas. In cases wherethe intestines are damaged, your body may have difficul-ty absorbing nutrients from food. Although GI problemsare diverse, here are some things that might help at leastsome of the problems you have:

■ Eat small, frequent meals.

■ Raise the head of your bed with blocks, and standor sit for at least an hour (preferably two or three)after eating to keep stomach contents from back-ing up into the esophagus.

■ Avoid late-night meals, spicy or fatty foods,and alcohol and caffeine, which can aggravate GI distress.

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■ Chew foods well and eat moist, soft foods. If youhave difficulty swallowing or if your body doesn’tabsorb nutrients properly, your doctor may prescribea special diet.

■ Ask your doctor about prescription medicationsfor problems such as diarrhea, constipation,and heartburn. Some drugs called proton pumpinhibitors are highly effective against heartburn.Oral antibiotics may stop bacterial overgrowth inthe bowel that can be a cause of diarrhea in somepeople with systemic sclerosis.

Lung damage: About 10 to 15 percent of people withsystemic sclerosis develop severe lung disease, whichcomes in two forms: pulmonary fibrosis (hardening orscarring of lung tissue because of excess collagen) andpulmonary hypertension (high blood pressure in theartery that carries blood from the heart to the lungs).Treatment for the two conditions is different.

■ Pulmonary fibrosis may be treated with drugsthat suppress the immune system such as cyclo-phosphamide (Cytoxan) or azathioprine (Imuran),along with low doses of corticosteroids.

■ Pulmonary hypertension may be treated withdrugs that dilate the blood vessels such as prostacyclin (Iloprost).

Regardless of the problem or its treatment, your role inthe treatment process is essentially the same. To minimizelung complications, work closely with your medical team.Do the following:

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■ Watch for signs of lung disease, includingfatigue, shortness of breath or difficulty breath-ing, and swollen feet. Report these symptoms toyour doctor.

■ Have your lungs closelychecked, using standard lung-function tests, during the earlystages of skin thickening.These tests, which can findproblems at the earliest andmost treatable stages, are need-ed because lung damage canoccur even before you noticeany symptoms.

■ Get regular flu and pneumoniavaccines as recommended byyour doctor. Contracting eitherillness could be dangerous fora person with lung disease.

Heart problems: About 15 to 20 percent of people withsystemic sclerosis develop heart problems, includingscarring and weakening of the heart (cardiomyopathy),inflamed heart muscle (myocarditis), and abnormal heartbeat (arrhythmia). All of these problems can be treated.Treatment ranges from drugs to surgery, and variesdepending on the nature of the condition.

Kidney problems: About 15 to 20 percent of people withdiffuse systemic sclerosis develop severe kidney problems,including loss of kidney function. Because uncontrolledhigh blood pressure can quickly lead to kidney failure,it’s important that you take measures to minimize theproblem. Things you can do:

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About 15 to 20

percent of people

with systemic

sclerosis develop

heart problems.

■ Check your blood pressure regularly and, if youfind it to be high, call your doctor right away.

■ If you have kidney problems, take your prescribedmedications faithfully. In the past two decades,drugs known as ACE (angiotensin-convertingenzyme) inhibitors, including captopril (Capoten),enalapril (Vasotec), and quinapril (Accupril), havemade scleroderma-related kidney failure a less-threatening problem than it was in the past. Butfor these drugs to work, you must take them.

Cosmetic problems: Even if scleroderma doesn’t causeany lasting physical disability, its effects on the skin’sappearance—particularly on the face—can take their tollon your self-esteem. Fortunately, there are proceduresto correct some of the cosmetic problems sclerodermacauses.

■ The appearance of telangiectasias, small red spotson the hands and face caused by swelling of tinyblood vessels beneath the skin, may be lessenedor even eliminated with the use of guided lasers.

■ Facial changes of localized scleroderma, such asthe en coup de sabre that may run down the fore-head in people with linear scleroderma, may becorrected through cosmetic surgery. (However,such surgery is not appropriate for areas of theskin where the disease is active.)

How Can I Play a Role in My Health Care?

A lthough your doctors direct your treatment, you are the one who must take your medicine regularly,

follow your doctor’s advice, and report any problems

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promptly. In other words, the relationship between youand your doctors is a partnership, and you are the mostimportant partner. Here’s what you can do to make themost of this important role:

■ Get educated: Knowledge is your best defenseagainst this disease. Learn as much as you canabout scleroderma, both for your own benefit andto educate the people in your support network(see below).

■ Seek support: Recruit family members, friends,and coworkers to build a support network. Thisnetwork will help you get through difficult times:when you are in pain; when you feel angry, sad,or afraid; when you’re depressed. Also, look for ascleroderma support group in your community bycalling a national scleroderma organization. (Seenational resources for scleroderma information onpage 33.) If you can’t find a support group, youmight want to consider organizing one.

■ Assemble a health care team: You and your doc-tors will lead the team. Other members may includephysical and occupational therapists, a psychologistor social worker, a dentist, and a pharmacist.

■ Be patient: Understand that a final diagnosis can be difficult and may take a long time. Find a doctorwith experience treating people with systemic andlocalized scleroderma. Then, even if you don’t yethave a diagnosis, you will get understanding andthe right treatment for your symptoms.

■ Speak up: When you have problems or noticechanges in your condition, don’t feel too self-conscious to speak up during your appointment or

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even call your doctor or another member of yourhealth care team. No problem is too small toinquire about, and early treatment for any problemcan make the disease more manageable for youand your health care team.

■ Don’t accept depression: While it’s understand-able that a person with a chronic illness like scleroderma would become depressed, don’taccept depression as a normal consequence ofyour condition. If depression makes it hard foryou to function well, don’t hesitate to ask yourhealthcare team for help. You may benefit fromspeaking with a psychologist or social worker orfrom using one of the effective medications onthe market.

■ Learn coping skills: Skills like meditation, calm-ing exercises, and relaxation techniques may helpyou cope with emotional difficulties as well ashelp relieve pain and fatigue. Ask a member ofyour health care team to teach you these skills orto refer you to someone who can.

■ Ask the experts: If you have problems doing dailyactivities, from brushing your hair and teeth todriving your car, consult an occupational or phys-ical therapist. They have more helpful hints anddevices than you can probably imagine. Socialworkers can often help resolve financial andinsurance matters.

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Is Research Close to Finding a Cure?

No one can say for sure when—or if—a cure will befound. But research is providing the next best thing:

better ways to treat symptoms, prevent organ damage, andimprove the quality of life for people with scleroderma. Inthe past two decades, multidisciplinary research has alsoprovided new clues to understanding the disease, which isan important step toward prevention or cure.

Leading the way in funding for this research is theNational Institute of Arthritis and Musculoskeletal andSkin Diseases (NIAMS), a part of the National Institutesof Health (NIH). Other sources of funding for sclerodermaresearch include pharmaceutical companies and organiza-tions such as the Scleroderma Foundation, the SclerodermaResearch Foundation, and the Arthritis Foundation.Scientists at universities and medical centers throughoutthe United States conduct much of this research.

Studies of the immune system, genetics, cell biology,and molecular biology have helped reveal the causes of scleroderma, improve existing treatment, and createentirely new treatment approaches.

Research advances in recent years that have led to a betterunderstanding of and/or treatment for the diseases include:

■ The use of a hormone produced in pregnancy tosoften skin lesions. Early studies suggest relaxin,a hormone that helps a woman’s body to stretchto meet the demands of a growing pregnancy anddelivery, may soften the connective tissues ofwomen with scleroderma. The hormone is believedto work by blocking fibrosis, or the developmentof fibrous tissue between the body’s cells.

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■ Finding a gene associated with scleroderma inOklahoma Choctaw Native Americans. Scientistsbelieve the gene, which codes for a protein calledfibrillin-1, may put people at risk for the disease.

■ The use of the drug Iloprost for pulmonary hypertension. This drug has increased the qualityof life and life expectancy for people with thisdangerous form of lung damage.

■ The use of the drug cyclophosphamide (Cytoxan)for lung fibrosis. One recent study suggested thattreating lung problems early with this immuno-suppressive drug may help prevent further damageand increase chances of survival.

■ The increased use of ACE inhibitors for sclero-derma-related kidney problems. For the past twodecades, ACE inhibitors have greatly reduced therisk of kidney failure in people with scleroderma.Now there is evidence that use of ACE inhibitorscan actually heal the kidneys of people on dialysisfor scleroderma-related kidney failure. As many ashalf of people who continue ACE inhibitors whileon dialysis may be able to go off dialysis in 12 to18 months.

Other studies are examining the following:

■ Changes in the tiny blood vessels of people withscleroderma. By studying these changes, scien-tists hope to find the cause of cold sensitivity inRaynaud’s phenomenon and how to control the problem.

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■ Immune system changes (and particularly howthose changes affect the lungs) in people withearly diffuse systemic sclerosis.

■ The role of blood vessel malfunction, cell death,and autoimmunity in scleroderma.

■ Skin changes in laboratory mice in which a geneticdefect prevents the breakdown of collagen, leadingto thick skin and patchy hair loss. Scientists hopethat by studying these mice, they can answer manyquestions about skin changes in scleroderma.

■ The effectiveness of various treatments, including(1) methotrexate, a drug commonly used forrheumatoid arthritis and some other inflammatoryforms of arthritis; (2) collagen peptides adminis-tered orally; (3) halofugione, a drug that inhibits thesynthesis of type I collagen, which is the primarycomponent of connective tissue; (4) ultravioletlight therapy for localized forms of scleroderma;and (5) stem cell transfusions, a form of bonemarrow transplant that uses a patient’s own cells,for early diffuse systemic sclerosis.

Scleroderma research continues to advance as scientistsand doctors learn more about how the disease developsand its underlying mechanisms.

Recently, the NIAMS funded a Specialized Center ofResearch (SCOR) in scleroderma at the University ofTexas-Houston. SCOR scientists are conducting laboratory and clinical research on the disease. TheSCOR approach allows researchers to translate basic science findings quickly into improved treatment andpatient care.

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More Questions? Count on More Answers

S cleroderma poses a series of challenges for bothpatients and their health care teams. The good news is

that scientists, doctors, and other health care profession-als continue to find new answers—ways to make earlierdiagnoses and manage disease better. In addition, activepatient support groups share with, care for, and educateeach other. The impact of all of this activity is that peoplewith scleroderma do much better and remain active farlonger than they did 20 or 30 years ago. As for tomorrow,patients and the medical community will continue to pushfor longer, healthier, and more active lives for people withthe diseases collectively known as scleroderma.

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National Resources for Scleroderma

National Institute of Arthritis and Musculoskeletal andSkin Diseases Information ClearinghouseNIAMS/National Institutes of Health1 AMS CircleBethesda, MD 20892–3675(301) 495–4484 or (877) 22–NIAMS (226–4267) (free of charge)TTY: (301) 565–2966Fax: (301) 718–6366www.nih.gov/niams

This clearinghouse, a public service sponsored by theNational Institute of Arthritis and Musculoskeletal andSkin Diseases (NIAMS), provides information aboutvarious forms of arthritis and rheumatic diseases. Theclearinghouse distributes patient and professional educa-tion materials and also refers people to other sources ofinformation.

American Academy of Dermatology 930 N. Meacham RoadP.O. Box 4014Schaumburg, IL 60168–4014(847) 330–0230www.aad.org

This national professional association for dermatologistspublishes a pamphlet on skin conditions and can alsoprovide physician referrals.

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American College of Rheumatology1800 Century Place, Suite 250 Atlanta, GA 30345(404) 633–3777 Fax: (404) 633–1870www.rheumatology.org

This association provides referrals to doctors and healthprofessionals who work on arthritis, rheumatic diseases,and related conditions. The association also provideseducational materials and guidelines.

Scleroderma Foundation12 Kent Way, #101Byfield, MA 01922 (800) 722–HOPE (free of charge) or (978) 463–5843 Fax: (978) 463–5809E-mail: sfinfo@scleroderma.orgwww.scleroderma.org

The foundation publishes information on sclerodermaand offers patient education seminars, support groups,physician referrals, and information hotlines.

Scleroderma Research Foundation2320 Bath Street, Suite 315Santa Barbara, CA 93105(800) 441–CURE (2873) (free of charge) or (805) 563–9133www.srfcure.org

The foundation’s goal is to find a cure for sclerodermaby funding and facilitating the most promising, highestquality research and by placing the disease and its need

for a cure in the public eye. The foundation distributespatient handbooks and a twice yearly, research-relatednewsletter.

Arthritis Foundation1330 West Peachtree Street, Suite 100Atlanta, GA 30309Call your local chapter (listed in the telephone directory),or (404) 872–7100 or (800) 568–4045 (free of charge) www.arthritis.org

The foundation is a major voluntary organization devotedto supporting research on arthritis and other rheumaticdiseases, such as scleroderma. It also provides up-to-dateinformation on treatments, nutrition, alternative therapies,and self-management strategies. Chapters nationwideoffer exercise programs, classes, support groups, physi-cian referral services, and free literature.

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GlossaryAdult celiac disease—A chronic nutritional disorder in whichthe body cannot effectively digest fats and wheat gluten. Thecondition, which results in a distended abdomen and loose,fatty stools, is associated with several autoimmune diseases.

Amyloidosis—A disease in which excessive protein is depositedaround cells in various organs and tissues of the body.

Antibodies—Special proteins produced by the body’simmune system. They recognize and help fight infectiousagents, such as bacteria and other foreign substances thatinvade the body. The presence of certain antibodies in theblood can help in making a diagnosis of some diseases,including some forms of scleroderma.

Atherosclerosis—Abnormal fatty deposits in the inner layersof large or medium-sized arteries, which can lead to hardeningand narrowing of the arteries and blockages of the blood supply,especially to the heart.

Autoimmune disease—A disease in which the body’s immunesystem turns against and damages the body’s own tissues.

Calcinosis—The buildup of calcium deposits in the tissues. It may occur under the skin of the fingers, arms, feet, andknees, causing pain and infection if the calcium depositspierce the surface of the skin.

Calcium channel blockers—Medicines that lower bloodpressure, relieve chest pain, and stabilize normal heart rhythmsby inhibiting calcium movement into the heart muscles andsmooth muscle cells. They are used to treat a variety of conditions and to prevent circulatory and kidney problems in scleroderma.

Colitis—An inflammatory disease of the large intestine thatresults in diarrhea, discharge of mucus and blood, cramping,and abdominal pain. It is characterized by swelling, inflamma-tion, and ulceration of the mucous membrane of the intestine.

Collagen—A fabric-like material of fibrous threads that is akey component of the body’s connective tissues. In sclero-derma, too much collagen is produced or it is produced inthe wrong places, causing stiff and inflamed skin, blood vessels, and internal organs.

Connective tissue—Tissues such as skin, tendons, and cartilage that support and hold body parts together. The chiefcomponent of connective tissue is collagen.

CREST syndrome—An acronym for a collection of symptomsthat occur to some degree in all people with systemic sclerosis.The symptoms are Calcinosis, Raynaud’s phenomenon,Esophageal dysfunction, Sclerodactyly, and Telangiectasia.Because of the predominance of CREST symptoms in peoplewith limited systemic sclerosis, some people use the termCREST syndrome when referring to that form of the disease.

Eosinophilic fasciitis—A scleroderma-like disorder (oftenconsidered to be a localized form of scleroderma) featuringinflammation of the fascia (the thin, sheet-like connective tissues surrounding the muscles and other body structures)and an abnormally high number of a specific kind of whiteblood cells (eosinophils). The result of the inflammation maybe fibrous buildup in the skin of arms and legs, contractures,and carpal tunnel syndrome.

Esophageal dysfunction—Improper functioning of theesophagus (the tube that attaches the throat to the stomach)that can lead to heartburn and swallowing problems.

Fibroblast—A type of cell in connective tissue that secretesproteins, including collagen.

Fibrosis—A condition marked by increased fibrous tissuesthat develops between the cells of various organs or tissue. It is a common feature of scleroderma and some other dis-eases. Fibrosis causes hardening or stiffening of tissues inthe skin, joints, and internal organs.

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Graft-versus-host disease—A major complication of bonemarrow transplantations and sometimes blood transfusions in which white blood cells, called lymphocytes, in the marrowor blood attack tissues in the body into which they weretransplanted.

Human adjuvant disease—An autoimmune syndrome inwhich the body becomes extremely sensitive to a foreignmaterial injected into the body.

Mycosis fungoides—A form of lymph cancer characterizedby scaly skin patches. It progresses over several years toform elevated skin lesions and then tumors.

Pulmonary fibrosis—Hardening or scarring of lung tissuebecause of excess collagen. Pulmonary fibrosis occurs in asmall percentage of people with systemic sclerosis.

Pulmonary hypertension—Abnormally high blood pressurein the arteries supplying the lungs that may be caused by anumber of factors, including damage from fibrosis.

Raynaud’s phenomenon—A disorder of the small blood ves-sels of the extremities, causing coldness and reduced bloodflow. In response to cold or anxiety, these vessels go intospasms, causing pain, the sensations of burning and tingling, and color changes.

Rheumatic—An adjective used to describe a group of condi-tions characterized by inflammation or pain in the muscles,joints, and fibrous tissue. Rheumatic diseases or disorderscan be related to autoimmunity or other causes.

Sclerodactyly—The hard, shiny appearance of fingers causedby excess connective tissue buildup. This is a common featureof scleroderma, but it may also occur in other conditions.

Systemic condition—A condition involving the body as awhole, as opposed to limited conditions that affect particularparts of the body.

Systemic lupus erythematosus—A systemic rheumatic diseasethat occurs predominantly in women and is characterized byautoimmune activity, a facial rash across the bridge of thenose and cheeks, Raynaud’s phenomenon, joint pain andswelling, fever, chest pain, hair loss, and other symptoms.Many of its symptoms overlap with those of scleroderma.

Telangiectasia—Small red dots, usually on the face andhands, resulting from tiny blood vessels showing throughthe skin’s surface.

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Acknowledgments: The NIAMS gratefully acknowl-edges the assistance of Reva Lawrence, M.P.H., SusanaSerrate-Sztein, M.D., Alan Moshell, M.D., and BarbaraMittleman, M.D., NIAMS, NIH; Stanley Pillemer, M.D.,National Institute of Dental and Craniofacial Research;Philip Clements, M.D., University of California at LosAngeles; Vincent Falanga, M.D., Boston University; E.Carwile LeRoy, Medical University of South Carolina,Charleston; Morris Reichlen, M.D., Oklahoma MedicalResearch Foundation, Oklahoma City; Larry Solomon,M.D., Lutheran General Children’s Hospital, Park Ridge,IL; Virginia Steen, M.D., Georgetown University MedicalCenter, Washington, DC; Barbara White, M.D., Universityof Maryland at Baltimore; and the SclerodermaFoundation, Byfield, MA, in the preparation and review ofthis manuscript. Special thanks also go to the patients whoreviewed this publication and provided valuable assistance.Mary Anne Dunkin was the primary author of this booklet.

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U.S. Department of Health andHuman ServicesPublic Health Service

National Institutes of Health

National Institute of Arthritis and Musculoskeletal and Skin Diseases

NIH Publication No. 01–4271May 2001